Linked Data
dbSNP Id:
rs748475898
ExAC:
17:38028561 C / T
gnomAD v2:
17-38028561-C-T
gnomAD v3:
17-39872308-C-T
gnomAD v4:
17-39872308-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39872308C>T , CM000679.2:g.39872308C>T | GRCh38 |
| NC_000017.10:g.38028561C>T , CM000679.1:g.38028561C>T | GRCh37 |
| NC_000017.9:g.35282087C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348931.9:c.445C>T MANE Select | ENSP00000335384.5:p.Arg149Cys | |
| ENST00000348931.8:c.445C>T | ENSP00000335384.5:p.Arg149Cys | |
| ENST00000377940.3:c.379C>T | ENSP00000367174.3:p.Arg127Cys | |
| ENST00000583811.5:c.91C>T | ENSP00000462463.1:p.Arg31Cys | |
| ENST00000584588.5:c.406+683C>T | ENSP00000462067.1:n.406+683C>T | |
| NM_198844.2:c.379C>T | NP_942141.2:p.Arg127Cys | |
| NM_199321.2:c.445C>T | NP_955353.1:p.Arg149Cys | |
| XM_011524298.1:c.445C>T | XP_011522600.1:p.Arg149Cys | |
| XR_002957959.1:n.636C>T | ||
| NM_198844.3:c.379C>T | NP_942141.2:p.Arg127Cys | |
| NM_199321.3:c.445C>T MANE Select | NP_955353.1:p.Arg149Cys |